There's not much I wouldn't do for my children. Gavin in particular who, let's face it, kind of got the short end of the stick in our family with all the things he has to deal with. Over the years I've hunted down specialists... researched therapies and syndromes and supplements and more until the wee hours of the morning... we put a Hyperbaric Oxygen chamber in our living room... we've taken Gavin to shrines and Shaman healing ceremonies... I've brazenly hunted down doctors and specialists online and convinced them to help us... I truly could go on and on. Many of the things we've done have helped tremendously. But there is still one thing that continues to seem out of reach.
A diagnosis.
It's a very helpless feeling to not have a diagnosis. In the short run, a "title" for Gavin's collection of features and behaviors and medical issues wouldn't change anything. It wouldn't change how we treat him, feed him, love him, and work with him. But a diagnosis could change everything in the long run. A diagnosis may tell us that Gavin's life span is significantly shorter. It could tell us how to plan for his future in a more appropriate way - financially, medically and emotionally. And it would be a huge factor in deciding long term care - if we were to pass away before him. These types of issues are rather overwhelming if I let myself go there - which I don't very often.
Insert this "Parents Magazine Blog Competition."
Before this competition, the blog had a slowly growing group of followers that quickly feel like friends. That's just how it is around here - a bunch of friends. (Well, except for the occasional meanie or troll which, luckily, I don't encounter too often) Since I was nominated by the editors of Parents Magazine (which still shocks me!), the amount of traffic I've received has been incredible. And when one of the other women in my category, Glennon Melton from the wildly popular blog, Momastery, generously endorsed Chasing Rainbows... even encouraging her readers to vote for me... it practically crashed my site. The traffic had me thinking of one thing...
A diagnosis.
What if - regardless of whether I "win" this competition or not - I was able to gain increased international exposure for Gavin. What if I used this competition as a platform - and worked my butt off to get people to my blog - all with the hope of getting more eyes on my precious son? And, while doing so, I could bring more people to the page with the list of all the other blogs - in turn, getting more exposure for them!
Each of us write for our own reasons. Jo from "A Sweet Dose of Truth" writes about her family, including her son's autism. And right now, she could use some help so if you're familiar with autism, please click her blog name above. And Deanna from "Everything and Nothing From Essex" writes about her family, including her sweet daughter's Down Syndrome. Dan from "Single Dad Laughing" has a deeply personal blog that touches on his life with his son, bullying, sexual orientation issues and more. And Glennon from "Momastery" shares her life so openly and honestly that she changes the world, one person at a time. I mean that quite literally. Her blog is a life changer. The platform we've all been given by Parents Magazine makes all of us winners. And I've been happy to promote their blogs as I've promoted my own.
We all need each other. And where else can we put our needs out there and get near instant feedback than the internet? The increased traffic that I've received... and probably the other candidates have received... may lead each of us to something big. Maybe it will lead to a professional contact... or a great idea for our children... or a writing gig... or maybe, just maybe, it could lead to...
A diagnosis.
Can you imagine if someone finds my blog somewhere in the world and recognizes the features and behaviors in Gavin? Maybe their child - or one of their patients - looks and acts the same way and has had a similar history. Sometimes those kinds of random connections can accomplish what the medical world has been unable to. You just never, ever know.
(You can find an entire post devoted to his genetic history here!)
(You can find an entire post devoted to his genetic history here!)
I've never "promoted" my blog anywhere before. It never really occurred to me! But this competition suddenly gave me a reason to put myself out there. Put Gavin out there. Asking for votes for the competition felt better than saying "Can you come read my blog?" Now it felt like asking for votes may lead to more exposure for Chasing Rainbows which, in turn, could lead to connections which, in turn, could someday lead to...
That diagnosis.
So, I've been begging on Facebook. And I've been taking to Twitter. I've tweeted celebrity after celebrity to bring them to the Parents Magazine Voting page. Celebrities are generally wealthy and have access to the best of the best. It is possible that one of their connections may lead ANY of the candidates in the competition to something important! Or, when they retweet my tweet for votes, any of their followers could find my blog. It's a long and winding road through people to find my one elusive thing. A diagnosis for our son.
It's also been a little fun, I'm not going to lie. I'm a big Bravo fan - and love the Real Housewives franchise. I've had support from Kyle Richards (Paris Hilton's Aunt!), Yolanda Foster (David Foster's wife!), and Camille Grammar from Beverly Hills... Carole Radziwill (Jackie O's niece, Mom!!), Heather Thomson and Aviva Drescher from New York... Caroline Manzo, Jaqueline Laurita and Rosie Pierri from New Jersey... Lea Black from Miami... Tabatha Coffey from the show, "Tabatha Takes Over"... and I also got support from one of my favorite bloggers, CJane Kendrick. (Love her) Oh, and I got a random, shocking follow from Kevin Costner. Not sure why - but cool, right?
So win... or lose... it really doesn't matter. I am beyond thrilled to be nominated, especially in the company of the other bloggers. And if, years from now, it was the Parents Magazine Blog Competition that was the springboard we needed to get Gavin a diagnosis... I will be eternally grateful.
There's really nothing I wouldn't do. Including tweeting Snooki. Oh yes, I did.
Sorry if you've already answered this - but have you taken him to a naturopath? I have one and she's a Godsend.
ReplyDeleteWe do and/or have done a lot of alternative things - energy healing, hyperbaric oxygen therapy, supplements, etc. But I have never seen a naturopath. I'll look into it! Thanks!
DeleteHello - I wish I knew how to reach you. Have you had chromosomal testing done? Probably so - but if not that could help. I have a daughter who is missing a certain range of chromosome 16 and is the only one so far with that specific deletion but after 3 years of being in a database - the doctors have found 9 of us (database and google and Facebook helped) that have a common range of overlap. It is very helpful to talk with these other families. Even so, no 2 are alike - but all have common things they are dealing with - the severity, etc. differs but it is great to know what to look out for and what help to get. All the best to you and adorable Gavin!
ReplyDeleteHi Momma! Anyone can reach me anytime! Through comments or my email, kmg41470@yahoo.com. Gavin has had every genetic test available - including Exome Sequencing. We have hit a dead end until new advancements in genetic testing (or a fluke that we'll meet Gavin's doppleganger out there somewhere!). Thank you for your kind note!!
Deletekate.
Contact the NIH. They have an "Undiagnosed Diseases" department. I have had a friend go there, and they were able to figure out what the daughter had, and are now able to treat it accordingly.
ReplyDeleteThank you so much! We just met with Carsten Bonnemann from the NIH last month. I wrote about it in this blog post:
Deletehttp://www.kateleong.com/2013/01/childrens-national-medical-center.html
Since Gavin has had all the genetic testing available, he won't be able to get into that Undiagnosed Diseases program until new advancements are made. Dr. Bonnemann said he could get in about two or so years from now. :-(
Thank you for your note!
kate.
Gavin. Gorgeous, courageous Gavin. Strong, beautiful you. Praying for a diagnosis. For peace and joy for you. Thank you for changing my perspective tonight. So much love.
ReplyDeleteThank you for taking the time to write such a beautiful note, Amanda!! :-)
DeleteThis makes me incredibly sad. I have a terminally ill 9 month old and the only thing that has made it slightly bearable is that we received a very early diagnosis (Niemann-Pick Disease, Type A). Knowing has afforded us all of the opportunities you're chasing and I'm so sorry that you haven't been given the same.
ReplyDeleteBaylor University of Medicine runs a program whereby they sequence a person's DNA in an attempt at a diagnosis, such as in Gavin's case. It's not always successful - they caution against that - and it's $7-9k but it may be a path you want to pursue. The Times just did an article on it a few days ago (http://www.nytimes.com/2013/02/19/health/dna-analysis-more-accessible-than-ever-opens-new-doors.html). I hope this is useful!!
I wish you the best - you, Gavin and your family will be in my thoughts.
I am so, very sorry about your baby!! I hope you are able to spend beautiful, quality time together.
DeleteWe recently had Exome Sequencing done through Baylor University - which I'm guessing is what you're referring to? We hit a dead end, basically. Now we'll have to wait about 2-3 years for advancements in genetic testing.
Thank you so much for your kind note. xo
I should have realized that since you've obviously gone to the ends of the earth, this would not be news to you. We will keep you guys in our thoughts and if I come across anything I'll be sure to let you know. We'll follow your story as well and share it where possible.
DeleteBest of everything! xoxo, Eileen
Have you heard of the Clinic for Special Children? I live in Lancaster County, PA and the clinic was founded to help the Amish and other Plain sects with care and diagnosis of genetic conditions affecting children. I've heard nothing but wonderful things about Dr. Holmes Morton and his clinicians. Their website is http://www.clinicforspecialchildren.org
ReplyDeleteThey are a non-profit. It would be amazing if they could help your beautiful boy in any way.
Here is a 2005 NY Times article about Dr. Morton: http://www.nytimes.com/2005/11/06/magazine/06amish.html?pagewanted=all
Thank you, Miki! I'll look into it!!!
DeleteMy husband is a medical student and he is willing to help with a group of other medical students. Kate, can you please be specific with Gavin's symptoms? Standing by with a bunch of curious and intelligent medical students.
ReplyDeleteOoooo....how fun! Are they really standing by?? Can they see me? Hi!
DeleteI'll have to compile a list of all the genetic tests he's had and what has been ruled out. But here are some of his issues: congenital ptosis, high arched palate, sparse eyebrows, elongated philtrum, epicanthal folds (but note that he is half chinese), broad thumbs and toes, hypoplastic thumbs, tracheomalacia, he was born with sensorineural hearing loss in both ears (which has since been miraculously restored. seriously), asymmetric ventricles (neuro), blonde hair (prompted prader willi which was negative), high forehead, flat nasal bridge, simple ears with the left one minimally overfolded, extremely flexible joints, single palmar creases, low tone, non verbal, flat feet, developmental delay. I'm sure I'm forgetting things - I'm doing this from memory.
You should know that Gavin has had extensive genetic testing. Most frequently, Exome Sequencing. And a common thought is Mito, which has been ruled out.
Gavin was also a twin. We lost his twin around 13-14 weeks.
Thanks so much for caring!!
Wishing you all the best for Gavin. I have recently suffered hearing loss. As a mom of two young boys and the breadwinner, I have also been on medical searches. Though obviously not as complicated as your case. I would be very grateful if you can share some about his hearing being restored. I am on the seach for miraculous healing. Love to you.
Delete.
Hi Barbara!
DeleteWe took Gavin to the St Katharine Drexel Shrine in Philadelphia. Email me (click the contact me bubble on the right side of the blog) and tell me where you live!
Kate
Kate, best of luck to you and your family on this journey.
ReplyDelete-a new reader from Virginia.
Thank you, Mary! I hope you stick around to become "a veteran reader from Virginia" and see Gavin graduate high school on my blog! :-)
DeleteBest of luck to you and your family on this journey.
ReplyDeleteI cannot offer a diagnosis, but rather true concern and hope for a chance for health without one. I have studied and read of and talked to people who have gotten better from countless things that were even considered by the medical community to be incurable, and better from things that they did not even know what the matter was (not having a diagnosis). They did this through corrective care to allow the bodies nervous system to function properly to tell the body to function and heal properly. at www.maximizedliving.com you can find the nearest Corrective care specialist chiropractor. Although they will not be able to give a diagnosis they will be able to help him to be healthier than ever, perhaps even to not need one. Only good could come from it, even if he does not get completely "cured" there are no harmful side effects and he will surely have better health for it. Whomever you find will be able to explain in person better than I can online, I pray blessings to you, to your son and all your family, peace and hope, health and healing, and knowing that you are loved in Jesus. God bless.
ReplyDeleteHi! Sorry the posting confused you - all comments come to me for review before I post them. You wouldn't believe the spam that comes through and I wouldn't want that to post along with everyone else's real comments! Thanks for trying again!!
DeleteAs for the corrective care - Gavin doesn't see a traditional Chiropractor, but he does see an energy healer that does something similar to Reiki - but better. He has seen AMAZING success with her (as have I!) so I know where you are coming from.
Thank you so much for taking the time to write on my blog. It means so much to me that so many people care about my sweet boy!!!
I did not understand how google does this, I thought that it messed up and did not submit my first post and I was distressed and sent a second to insure that you got a message, well I guess if you get two similar messages from me, I guess that is something fun to laugh about, and certainly better than not getting the message at all. Have a great night. God bless you all
ReplyDeleteSee a chiropractor please! Miracles happen daily through their work. I see that I am not the only one to mention this.
ReplyDeleteYou mentioned mito has been "ruled out" but my understanding is mito can't be completely ruled out (see mitoaction.org 's podcast on testing/work-up) so i'd still be interested in talking to you more about that with the hypotonia and dev delay, etc. Would be interested to know if he's seen an actual mito specialist as opposed to general geneticists ruling it out. My daughter's specialist consider's her to have mito despite the fact that we haven't been able to "prove" it yet. And she's responded well to the mito cocktail though still obviously has some issues :). Would be happy to talk with you further if you're interested - Love, fellow Monkee and Momma of a seven year old who also went through years of trying to figure things out... xoxo.
ReplyDeleteHi Kim- I just got off the phone with Gavin's genetic counselor. We are taking a second look at Mito. I'll be posting new information on my blog later about this. Thank you so much for the push. I had walked away from the last testing thinking it was "ruled out", but it wasn't really ruled out at all.
DeleteI'm really grateful for you taking the time to write to me. It means a lot!!
I'm glad to hear it was helpful, Kate - feel free to email me anytime krmcilnay@yahoo.com. any of your readers with kids with mito/concerns too... It's a major issue and so hard to diagnose and so few specialists who really understand it. Have some resources I would recommend for you if you want to talk further after everything "settles down" from your post :))
DeleteSome may call it coincidence. I prefer to call it God. I was brought to you via Glennon's post to help find a diagnosis for Gavin. Just another mom traveling the road of special needs who knows in fact knows of another mom in a similar situation with her son. Maybe Gavin's dopplenger. Would love to connect the two of you. I facebook messaged her privately and sent her your link. Hoping and praying it helps bring an answer for both of you.
ReplyDeleteI look forward to hearing from her! Thanks for taking the time to try to link us together!! All of this support is overwhelming and I feel so grateful.
DeleteHello, exome sequencing focuses on the actual gene sequence, there is a lot of DNA which is not gene sequence. Some of this DNA contains control elements which say when the gene is activated. Perhaps a full genome sequencing will help. (Hope that is not too much science). I was involved with this charity a few years back, www.rarechromo.org. They are a fantastic set of people who support families whose children have rare chromosomal disorders. I thought of them as you could pass on the features of Gavin and see if anyone recognises them. I hope this helps and you get your diagnosis. Sandra
ReplyDeleteHi Sandra...
DeleteIt's definitely not too much science for me. Can you email me at kmg41470@yahoo? Gavin had Exome sequencing. I was told by genetics that Whole genome sequencing is not generally used in the clinical setting - that it comes back with too much info that could be very confusing.
www.rarechromo.org is UNIQUE which is a UK based charity. But we are in Australia and when Georgia's chromosome deletion was diagnosed, we contacted them and they had her 'deletion twin' already registered with them. And despite 'her twin' living in the UK and us in Australia, we were able to meet up in 2007. A priceless and valuable time for BOTH of us. I believe Unique has the world's largest database of rare chromo disorders. But, I believe you need a diagnosis before they would be able to help. I hope someone will correct me if I'm wrong? Keep up the hunt SuperKate. I have no doubt that a diagnosis for Gavin is out there and you.will.find.it.
DeleteMichelle. Also known as the nicest person you've never met! :)
Good Morning...I wrote you and Gavin a long note last night just to have my phone crash. Anyway...Gavin is just adorable. Truly. What a sweet smile and a twinkle in his eye. Precious. I can't wait to meet him and you someday :) I completely understand your desire for a diagnosis. I get it. Our struggle is so much smaller but gives me that much more hope for you that you get a diagnosis you crave. Because you are right - it will at least give you a path. I think of Gavin and your entire family daily and am so grateful that we have connected. You are write about the PARENTS award - it is an honor to have been nominated and we are all winners for being there. Good for you for using it as a platform to spread awareness; that is a perfect use. I vote daily and hope you get the awareness Gavin and other kids need. Thinking of you. And hoping your blog keeps crashing with visitors!!
ReplyDeleteKate, you (and Gavin!) deserve all this good fortune, and more. Reading through the comments, I am so psyched to see people sharing valuable information that may give you clues...or an answer. You know, I think your blog has always been a platform. So has mine. So has all moms of kids with special needs. It is our platform for the world to see just why our kids ROCK.
ReplyDeleteAnd us too, of course. :) Rock on, friend. Rock on.
You know, I would L-O-V-E for this to lead to a diagnosis for all the reasons you listed. But perhaps your platform is for the undiagnosed like Gavin and like my daughter. I get all the well informed well intentioned suggestions like the ones you have received, except we've already done them, just like you. It's hard for people (and sometimes me) to accept the fact that in our age of technology and medical miracles there is still so much unknown. How wonderful it would be if people understood what it is like as a parent to make decisions for a child with a complex medical condition without a name and so many unknowns. Your blog already does a great job of showing what a balancing act it is.
ReplyDeleteCame across microdeletion syndrome mentioned on Penn State Milton S Hershey Medical Center's FB page. Under 100 diagnoses. Just passing it along ... no idea if it would have relevance or not. Blessings to your family.
ReplyDeleteLoving all the comments, suggestions and support. Praying it leads to a diagnosis for Gavin. Admitting I'm checking out all the suggestions too :)
ReplyDeleteHi.
ReplyDeleteI have just found your blog through Momastery. I cannot offer any help regarding the diagnosis, but I want to share this, in the humble hope that it might help you a bit. My son has a speech problem. He's nearly six, and today I had to "translate" everything he said on a phone conversation. After two years of therapy, I can understand him well enough, most people too, if the make an effort. "Apraxia" seems to be the latest fancy word around us.
I too, suffer from NOT KNOWING what he has, or how to help him. (theraphists and neurologists, and doctors... none of them has "nailed" the problem. We live in Ecuador, and speech theraphy is sooooo bad)
I hurt every time a kid makes fun of him, everytime an adult looks at me as if I AM A BAD mother for not being able to teach him. Its really hard, and he ony has this tiny problem, I do not know how you find the courage to keep fighting, you are my hero.
Now, I wrote all this for a reason. I have come to realise that my son is in my life for several reasons. One of them, to help ME to let go of my need to know. To know a diagnosis, to know a treatment, to have "words" that I can relate to, to know of the type of school he will go. I do not know WHY, but it seems to me that most of the things that would ease my mind, are beyond my reach. So my real learning, has been to live without wanting these things, or yearning for them. I take the latest "word", see what I can do, do the therapy, if it does not work, rest, then move to something else. No expectations, just the extraordinary love that my son inspires. I know this will not help you to make plans. But, it seems to me that maybe you want to focus a bit on things that help you to let go of the anguish that is generated by "not being able to plan things for the future". Techniques like zen meditation (compatible will all religions) or mindfullnes. It has eased my mind, and I find that good for me and for my son.
You are in my prayers. Thank you for helping me focus.
Victoria,
DeleteThank you for taking the time to write such a beautiful, thoughtful letter to me. I am sorry your son struggles with his speech!
I think you are right that your son is in your life for a reason. I truly believe that we learn life's greatest lessons, if we are open, from parenting our children. Just as your son was sent to heal you...Gavin was sent to heal me. I often say that his birth saved my life. I really mean that. I actually spend less time obsessing about a diagnosis than you might think. While its true that I want an answer...and while its true that I will do anything and everything to help him...I also love just enjoying him for who he is. And I like to give him breaks from "working" all the time and just let him be. He deserves that. And I deserve to enjoy my son and not feel the need to "fix him" 24 hours a day. Admittedly, it took me some time to strike that balance.
I'm so glad you found my blog. I hope you stick around and become part of the family.
Xoxo
Reading this has left me in tears. I found your blog through a close friend whose son is affected by a very rare genetic syndrome. My daughter is affected by two very rare genetic syndromes. While little is known about her syndromes and we are frequently frustrated with the lack of knowledge and the unknown that we face due to that, we HAVE diagnoses. I can't imagine your frustration and fears in dealing with the complete unknown you face every day. We will be praying for you, for Gavin, for your family and for your doctors. Praying that some day you will find answers, and that some day, some how, our amazing kids will know not only answers, but cures. <3
ReplyDelete